A proposal for comprehensive newborn hearing screening to improve identification of deaf and hard-of-hearing children

Allele-Specific Droplet Digital PCR Combined with a Next-Generation Sequencing-Based Algorithm for Diagnostic Copy Number Analysis in Genes with High Homology: Proof of Concept Using Stereocilin

(2018) Sami S. Amr et al.   CLINICAL CHEMISTRY

Neonates with congenital Cytomegalovirus and hearing loss identified via the universal newborn hearing screening program

(2018) William D. Rawlinson et al.   JOURNAL OF CLINICAL VIROLOGY

Concurrent Hearing, Genetic, and Cytomegalovirus Screening in Newborns, Taiwan

(2018) Chun-Yi Lu et al.   JOURNAL OF PEDIATRICS

Valganciclovir Is Beneficial in Children with Congenital Cytomegalovirus and Isolated Hearing Loss

(2018) Yehonatan Pasternak et al.   JOURNAL OF PEDIATRICS

Large scale newborn deafness genetic screening of 142,417 neonates in Wuhan, China

(2018) Zongjie Hao et al.   PLoS One

Newborn Screening of Genetic Mutations in Common Deafness Genes With Bloodspot-Based Gene Chip Array

(2018) Xuehu He et al.   American Journal of Audiology

Screening for Congenital Cytomegalovirus After Newborn Hearing Screening: What Comes Next?

(2017) Scott D. Grosse et al.   PEDIATRICS

A Targeted Approach for Congenital Cytomegalovirus Screening Within Newborn Hearing Screening

(2017) Karen B. Fowler et al.   PEDIATRICS

Outcomes From a Hearing-Targeted Cytomegalovirus Screening Program

(2017) Marissa L. Diener et al.   PEDIATRICS

Hearing Loss in Children With Asymptomatic Congenital Cytomegalovirus Infection

(2017) Tatiana M. Lanzieri et al.   PEDIATRICS

Age at Intervention for Permanent Hearing Loss and 5-Year Language Outcomes

(2017) Teresa Y.C. Ching et al.   PEDIATRICS

Early Hearing Detection and Vocabulary of Children With Hearing Loss

(2017) Christine Yoshinaga-Itano et al.   PEDIATRICS

A reverse dot blot assay for the screening of twenty mutations in four genes associated with NSHL in a Chinese population

(2017) Siping Li et al.   PLoS One

Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients

(2017) D. Baux et al.   Scientific Reports

Congenital hearing loss

(2017) Anna M. H. Korver et al.   Nature Reviews Disease Primers

Screening of deafness-causing DNA variants that are common in patients of European ancestry using a microarray-based approach

(2017) Denise Yan et al.   PLoS One

Rapid and Reliable Detection of Nonsyndromic Hearing Loss Mutations by Multicolor Melting Curve Analysis

(2017) Xudong Wang et al.   Scientific Reports

Advances in the prevention and treatment of congenital cytomegalovirus infection

(2016) Scott H. James et al.   CURRENT OPINION IN PEDIATRICS

Newborn genetic screening for hearing impairment: a population-based longitudinal study

(2016) Chen-Chi Wu et al.   GENETICS IN MEDICINE

Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss

(2016) Christina M. Sloan-Heggen et al.   HUMAN GENETICS

Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents

(2016) Denise Yan et al.   HUMAN GENETICS

International Pediatric Otolaryngology Group (IPOG) consensus recommendations: Hearing loss in the pediatric patient

(2016) Bryan J. Liming et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

Auditory neuropathy — neural and synaptic mechanisms

(2016) Tobias Moser et al.   Nature Reviews Neurology

Language Outcomes in Young Children with Mild to Severe Hearing Loss

(2015) J. Bruce Tomblin et al.   EAR AND HEARING

Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing–based diagnostic testing and interpretation

(2015) Ahmad N. Abou Tayoun et al.   GENETICS IN MEDICINE

Newborn hearing screening: analysis and outcomes after 100,000 births in Upper-Normandy French region

(2015) Sophie Caluraud et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

Valganciclovir for Symptomatic Congenital Cytomegalovirus Disease

(2015) David W. Kimberlin et al.   NEW ENGLAND JOURNAL OF MEDICINE

Massively Parallel Sequencing for Genetic Diagnosis of Hearing Loss

(2015) A. Eliot Shearer et al.   OTOLARYNGOLOGY-HEAD AND NECK SURGERY

Population Outcomes of Three Approaches to Detection of Congenital Hearing Loss

(2015) Melissa Wake et al.   PEDIATRICS

American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss

(2014)   GENETICS IN MEDICINE

A rapid method for simultaneous multi-gene mutation screening in children with nonsyndromic hearing loss

(2014) Wan Du et al.   GENOMICS

Diagnostic Yield of Computed Tomography Scan for Pediatric Hearing Loss

(2014) Jenny X. Chen et al.   OTOLARYNGOLOGY-HEAD AND NECK SURGERY

Diagnostic Yield of MRI for Pediatric Hearing Loss

(2014) Bart Kachniarz et al.   OTOLARYNGOLOGY-HEAD AND NECK SURGERY

Copy number variants are a common cause of non-syndromic hearing loss

(2014) A Shearer et al.   Genome Medicine

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

(2013) Robert C. Green et al.   GENETICS IN MEDICINE

Time after birth in relation to failure rate in newborn hearing screening

(2013) Luciana da Mata Lupoli et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

Newborn hearing concurrent genetic screening for hearing impairment—A clinical practice in 58,397 neonates in Tianjin, China

(2013) Junqing Zhang et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

Prevalence of auditory neuropathy spectrum disorder in an auditory health care service

(2013) Rosimar Costa Penido et al.   Brazilian Journal of Otorhinolaryngology

Children With Sensorineural Hearing Loss After Passing the Newborn Hearing Screen

(2013) Kavita Dedhia et al.   JAMA Otolaryngology-Head & Neck Surgery

Auditory screening concurrent deafness predisposing genes screening in 10,043 neonates in Gansu province, China

(2012) Zhewen Zhang et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

Ototoxicity in preterm infants: effects of genetics, aminoglycosides and loud environmental noise

(2012) E Zimmerman et al.   Journal of Perinatology

Incidental Medical Information in Whole-Exome Sequencing

(2012) B. D. Solomon et al.   PEDIATRICS

Limitations of Universal Newborn Hearing Screening in Early Identification of Pediatric Cochlear Implant Candidates

(2011) Nancy Melinda Young et al.   ARCHIVES OF OTOLARYNGOLOGY-HEAD & NECK SURGERY

Deafness in the genomics era

(2011) A. Eliot Shearer et al.   HEARING RESEARCH

Anxiety of the mothers with referred baby during Universal Newborn Hearing Screening

(2011) Md Daud Mohd Khairi et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

Newborn hearing concurrent gene screening can improve care for hearing loss: A study on 14,913 Chinese newborns

(2011) Qiu-Ju Wang et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

The prevalence of mitochondrial mutations associated with aminoglycoside-induced sensorineural hearing loss in an NICU population

(2011) Megan Ealy et al.   LARYNGOSCOPE

Newborn Hearing Screening vs Later Hearing Screening and Developmental Outcomes in Children With Permanent Childhood Hearing Impairment

(2010) Anna M. H. Korver et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Comprehensive Diagnostic Battery for Evaluating Sensorineural Hearing Loss in Children

(2010) Jerry W. Lin et al.   OTOLOGY & NEUROTOLOGY

Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing

(2010) A. E. Shearer et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Evolution of Early Hearing Detection and Intervention Programs in the United States

(2010) Karl R. White et al.   SEMINARS IN PERINATOLOGY

Impact of genetic advances and testing for hearing loss: Results from a national consumer survey

(2009) Kara A. Withrow et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A prospective, longitudinal study of the impact ofGJB2/GJB6genetic testing on the beliefs and attitudes of parents of deaf and hard-of-hearing infants

(2009) Christina G.S. Palmer et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Factors influencing parental decision about genetics evaluation for their deaf or hard-of-hearing child

(2009) Christina G S Palmer et al.   GENETICS IN MEDICINE

The epidemiology of hearing impairment in the United States: Newborns, children, and adolescents

(2009) Saral Mehra et al.   OTOLARYNGOLOGY-HEAD AND NECK SURGERY

A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy

(2008) Montserrat Rodríguez-Ballesteros et al.   HUMAN MUTATION

Forty-six genes causing nonsyndromic hearing impairment: Which ones should be analyzed in DNA diagnostics?

(2008) Nele Hilgert et al.   MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH

Evaluating Loss to Follow-up in Newborn Hearing Screening in Massachusetts

(2008) C.-l. Liu et al.   PEDIATRICS

Ethical and social implications of genetic testing for communication disorders

(2008) Kathleen S. Arnos   JOURNAL OF COMMUNICATION DISORDERS

Congenital cytomegalovirus (CMV) infection as a cause of permanent bilateral hearing loss: A quantitative assessment

(2007) Scott D. Grosse et al.   JOURNAL OF CLINICAL VIROLOGY